PPP1R3C

Chr 10

protein phosphatase 1 regulatory subunit 3C

Also known as: PPP1R5, PTG

This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]

OMIMResearchGenerating clinical summary…
0
Active trials
14
Pubs (1 yr)
P/LP submissions
P/LP missense
0.96
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.003
Z-score 1.66
OE 0.49 (0.270.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.11Z-score
OE missense 0.98 (0.861.11)
166 obs / 169.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.49 (0.270.96)
00.351.4
Missense OE?0.98 (0.861.11)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 6 / 12.3Missense obs/exp: 166 / 169.9Syn Z: -0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PPP1R3C · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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